Postzygotic mosaicism of SMARCB1 variants in patients with rhabdoid tumors: A not-so-rare condition exposing to successive tumors.

doi:10.1093/neuonc/noae122

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Community

Back to search

Article

Postzygotic mosaicism of SMARCB1 variants in patients with rhabdoid tumors: A not-so-rare condition exposing to successive tumors.

Neuro-oncology - 4 Nov 2024

Thomson Grégory, Filser Mathilde, Guerrini-Rousseau Léa, Tauziede-Espariat Arnault, Bourneix Christine, Gauthier-Villars Marion, Simaga Fatoumata, Beccaria Kévin, Faure-Conter Cécile, Maureille Aurélien, Zattara-Cannoni Hélène, Andre Nicolas, Entz-Werle Natacha, Brugieres Laurence, Mansuy Ludovic, Denizeau Philippe, Julia Sophie, Ingster Olivier, Lejeune Sophie, Brahimi Afane, Coupier Isabelle, Bonadona Valérie, Delattre Olivier, Masliah-Planchon Julien, Bourdeaut Franck

Abstract excerpt

BACKGROUND: Rhabdoid tumors (RT) are aggressive, rare tumors predominantly affecting young children, characterized by biallelic SMARCB1 gene inactivation. While most SMARCB1 alterations are acquired de novo, a third of cases exhibit germline alterations, defining Rhabdoid Tumors Predisposition Syndrome. With the increased sensitivity of next-generation sequencing (NGS), mosaicisms in genes linked to genetic...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Biomarkers, Tumor

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Follow-Up Studies

Share to Germ-Line Mutation

Share to High-Throughput Nucleotide Sequencing

Share to Infant, Newborn

Share to Mosaicism

Share to Rhabdoid Tumor

Share to SMARCB1 Protein

Source

Open in PubMed Open full text

Identifiers

PMID: 39093628
DOI: 10.1093/neuonc/noae122
PMCID: PMC11534313

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Postzygotic mosaicism of SMARCB1 variants in patients with rhabdoid tumors: A not-so-rare condition exposing to successive tumors.PMID 39093628Read ↗

Diverse Mechanisms of <i>SMARCB1</i> Inactivation and Genome Maintenance Defects in Ultra-Rare Malignant Rhabdoid TumorsSemantic proximity Read ↗

Current recommendations for clinical surveillance and genetic testing in rhabdoid tumor predisposition: a report from the SIOPE Host Genome Working GroupSemantic proximity Read ↗

Germline Cancer Predisposition Variants in Pediatric Rhabdomyosarcoma: A Report From the Children's Oncology Group.Semantic proximity Read ↗

Rhabdoid Tumor Predisposition Syndrome: From Clinical Suspicion to General ManagementSemantic proximity Read ↗

End of a diagnostic odyssey: the added value of multi-tissue analysis in the identification of mosaicism in tumour predisposition syndromes.Semantic proximity Read ↗

Postzygotic mutations and where to find them - Recent advances and future implications in the field of non-neoplastic somatic mosaicism.Semantic proximity Read ↗

Rhabdoid tumor predisposition syndrome.Semantic proximity Read ↗

Molecular pathogenesis of the schwannomatosis genes and genetic testing strategies.Semantic proximity Read ↗

Spectrum of SMARCB1/INI1 mutations in familial and sporadic rhabdoid tumors.Semantic proximity Read ↗

Advancing biology-based therapeutic approaches for atypical teratoid rhabdoid tumorsSemantic proximity Read ↗

Description of a new oncogenic mechanism for atypical teratoid rhabdoid tumors in patients with ring chromosome 22.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.